P19L (p.Pro19Leu) variant of KCNQ4 (P56696)
P19L (p.Pro19Leu) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- gnomAD 1-40784149-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.33
- MetaLR 0.79
- MetaSVM 0.31
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available